A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3218



Internal ID15537946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:184437072..184450968hg38UCSC Ensembl
Outerchr3:184154860..184168756hg19UCSC Ensembl
Outerchr3:185637554..185651450hg18UCSC Ensembl
Outerchr3:185637562..185651458hg17UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg385333
hg195333
hg185333
hg175333
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4147
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv3218
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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